gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98559717 (NFE)
Genomes Max Group AF
0.98559717 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154394970T>C , CM000666.2:g.154394970T>C | GRCh38 |
| NC_000004.11:g.155316122T>C , CM000666.1:g.155316122T>C | GRCh37 |
| NC_000004.10:g.155535572T>C | NCBI36 |
| NG_054879.1:g.101809A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357232.10:c.2053-17526A>G MANE Select | ENSP00000349768.5:n.2053-17526A>G | |
| ENST00000339452.2:c.2053-17526A>G | ENSP00000345062.1:n.2053-17526A>G | |
| NM_001142552.1:c.2053-17526A>G | NP_001136024.1:n.2053-17526A>G | |
| XM_011532045.1:c.2053-17526A>G | XP_011530347.1:n.2053-17526A>G | |
| NM_001358235.1:c.2053-17526A>G | NP_001345164.1:n.2053-17526A>G | |
| NM_001142552.2:c.2053-17526A>G | NP_001136024.1:n.2053-17526A>G | |
| NM_001358235.2:c.2053-17526A>G MANE Select | NP_001345164.1:n.2053-17526A>G |